chr19:11052925:G>T Detail (hg38) (SMARCA4)

Information

Genome

Assembly Position
hg19 chr19:11,163,601-11,163,601 View the variant detail on this assembly version.
hg38 chr19:11,052,925-11,052,925

HGVS

Type Transcript Protein
RefSeq NM_003072.3:c.4425-5330G>T
NM_001128844.1:c.4425-5330G>T
NM_001128845.1:c.4326-5330G>T
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.131
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:[No Data.]

Prediction

ClinVar

Clinical Significance Benign
Review star
Show details
Links
Type Database ID Link
Gene MIM 603254 OMIM
HGNC 11100 HGNC
Ensembl ENSG00000127616 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv61196041 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Benign 2024-01-24 criteria provided, single submitter Rhabdoid tumor predisposition syndrome 2 germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
<0.001 Vascular Diseases Single-nucleotide polymorphisms associated with plasma LDL-c and vascular risk i... BeFree 24251769 Detail
<0.001 Vascular Diseases Single-nucleotide polymorphisms associated with plasma LDL-c and vascular risk i... BeFree 24251769 Detail
0.125 myocardial infarction [Genome-wide association of early-onset myocardial infarction with single nucleo... GAD 19198609 Detail
0.123 Coronary heart disease Large-scale association analysis identifies 13 new susceptibility loci for coron... GWASCAT 21378990 Detail
<0.001 Peripheral Arterial Diseases However, 2 previously reported candidate genes for PAD and 1 SNP associated with... BeFree 22199011 Detail
0.123 Coronary heart disease The aim of this study was to evaluate 3 single nucleotide polymorphisms in SMARC... BeFree 20810930 Detail
0.019 Coronary Arteriosclerosis However, 2 previously reported candidate genes for PAD and 1 SNP associated with... BeFree 22199011 Detail
0.152 Cardiovascular Diseases In the cardiovascular disease risk factor adjusted analysis, the most significan... BeFree 24219970 Detail
0.031 coronary artery disease However, 2 previously reported candidate genes for PAD and 1 SNP associated with... BeFree 22199011 Detail
<0.001 Ischemic stroke This is the first study that demonstrates that rs1122608 confers protection agai... BeFree 24190014 Detail
<0.001 Coronary Arteriosclerosis The aim of this study was to evaluate 3 single nucleotide polymorphisms in SMARC... BeFree 20810930 Detail
0.027 Coronary heart disease However, 2 previously reported candidate genes for PAD and 1 SNP associated with... BeFree 22199011 Detail
0.003 Cardiovascular Diseases In the cardiovascular disease risk factor adjusted analysis, the most significan... BeFree 24219970 Detail
0.167 Coronary heart disease However, 2 previously reported candidate genes for PAD and 1 SNP associated with... BeFree 22199011 Detail
<0.001 Cerebrovascular accident BRG1 variant rs1122608 on chromosome 19p13.2 confers protection against stroke a... BeFree 24190014 Detail
0.125 myocardial infarction Genome-wide association of early-onset myocardial infarction with single nucleot... GWASCAT 19198609 Detail
0.126 coronary artery disease The aim of this study was to evaluate 3 single nucleotide polymorphisms in SMARC... BeFree 20810930 Detail
<0.001 Ischemic Cerebrovascular Accident This is the first study that demonstrates that rs1122608 confers protection agai... BeFree 24190014 Detail
0.148 coronary artery disease However, 2 previously reported candidate genes for PAD and 1 SNP associated with... BeFree 22199011 Detail
0.028 Coronary Arteriosclerosis However, 2 previously reported candidate genes for PAD and 1 SNP associated with... BeFree 22199011 Detail
0.126 coronary artery disease Shared genetic susceptibility to ischemic stroke and coronary artery disease: a ... GWASCAT 24262325 Detail
0.126 coronary artery disease A single nucleotide polymorphism (SNP) rs1122608 on chromosome 19p13.2 and in th... BeFree 24190014 Detail
0.126 coronary artery disease [Large-scale association analysis identifies 13 new susceptibility loci for coro... GAD 21378990 Detail
<0.001 Peripheral Arterial Diseases However, 2 previously reported candidate genes for PAD and 1 SNP associated with... BeFree 22199011 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_003072.5(SMARCA4):c.4425-5330G>T AND Rhabdoid tumor predisposition syndrome 2 ClinVar Detail
Single-nucleotide polymorphisms associated with plasma LDL-c and vascular risk in the general popula... DisGeNET Detail
Single-nucleotide polymorphisms associated with plasma LDL-c and vascular risk in the general popula... DisGeNET Detail
[Genome-wide association of early-onset myocardial infarction with single nucleotide polymorphisms a... DisGeNET Detail
Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease. DisGeNET Detail
However, 2 previously reported candidate genes for PAD and 1 SNP associated with coronary artery dis... DisGeNET Detail
The aim of this study was to evaluate 3 single nucleotide polymorphisms in SMARCA4-LDLR gene locus (... DisGeNET Detail
However, 2 previously reported candidate genes for PAD and 1 SNP associated with coronary artery dis... DisGeNET Detail
In the cardiovascular disease risk factor adjusted analysis, the most significant SNP was rs1122608:... DisGeNET Detail
However, 2 previously reported candidate genes for PAD and 1 SNP associated with coronary artery dis... DisGeNET Detail
This is the first study that demonstrates that rs1122608 confers protection against ischemic stroke ... DisGeNET Detail
The aim of this study was to evaluate 3 single nucleotide polymorphisms in SMARCA4-LDLR gene locus (... DisGeNET Detail
However, 2 previously reported candidate genes for PAD and 1 SNP associated with coronary artery dis... DisGeNET Detail
In the cardiovascular disease risk factor adjusted analysis, the most significant SNP was rs1122608:... DisGeNET Detail
However, 2 previously reported candidate genes for PAD and 1 SNP associated with coronary artery dis... DisGeNET Detail
BRG1 variant rs1122608 on chromosome 19p13.2 confers protection against stroke and regulates express... DisGeNET Detail
Genome-wide association of early-onset myocardial infarction with single nucleotide polymorphisms an... DisGeNET Detail
The aim of this study was to evaluate 3 single nucleotide polymorphisms in SMARCA4-LDLR gene locus (... DisGeNET Detail
This is the first study that demonstrates that rs1122608 confers protection against ischemic stroke ... DisGeNET Detail
However, 2 previously reported candidate genes for PAD and 1 SNP associated with coronary artery dis... DisGeNET Detail
However, 2 previously reported candidate genes for PAD and 1 SNP associated with coronary artery dis... DisGeNET Detail
Shared genetic susceptibility to ischemic stroke and coronary artery disease: a genome-wide analysis... DisGeNET Detail
A single nucleotide polymorphism (SNP) rs1122608 on chromosome 19p13.2 and in the BRG1/SMARCA4 gene ... DisGeNET Detail
[Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease.... DisGeNET Detail
However, 2 previously reported candidate genes for PAD and 1 SNP associated with coronary artery dis... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs1122608 dbSNP
Genome
hg38
Position
chr19:11,052,925-11,052,925
Variant Type
snv
Reference Allele
G
Alternative Allele
T
ToMMo VCF FILTER column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
PASS
Total VCF ID column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
rs1122608
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.1311
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
2198
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
Genome browser